Which are the symptoms of WAGR Syndrome - 11p Deletion Syndrome?

WAGR Syndrome, also known as 11p Deletion Syndrome, is a rare genetic disorder caused by the deletion of a small piece of chromosome 11. This condition is characterized by a combination of several symptoms that can vary in severity from person to person.

Wilms tumor is one of the key features of WAGR Syndrome. It is a type of kidney cancer that typically affects children. The risk of developing Wilms tumor is significantly increased in individuals with this syndrome. Early detection and treatment are crucial for a positive outcome.

Aniridia is another prominent symptom of WAGR Syndrome. It refers to the partial or complete absence of the iris, the colored part of the eye. Aniridia can cause various visual impairments, including sensitivity to light, blurred vision, and reduced depth perception.

Genitourinary abnormalities are common in individuals with WAGR Syndrome. These may include abnormalities of the urinary tract, such as structural defects in the kidneys, ureters, or bladder. Some affected individuals may also experience difficulties with urinary continence.

Intellectual disability is observed in a significant number of individuals with WAGR Syndrome. The severity of intellectual impairment can range from mild to severe, affecting cognitive abilities, learning, and overall development. Early intervention and appropriate educational support can help individuals with intellectual disabilities reach their full potential.

Developmental delays are often present in individuals with WAGR Syndrome. These delays can affect various aspects of development, including motor skills, speech and language acquisition, and social interactions. Early intervention therapies, such as physical therapy, speech therapy, and occupational therapy, can help address these delays and promote optimal development.

Other possible features of WAGR Syndrome include growth abnormalities, such as short stature or excessive weight gain, as well as certain facial characteristics like a broad nasal bridge, a prominent forehead, and a flattened midface. Additionally, individuals with WAGR Syndrome may be at an increased risk of developing other types of cancers, such as gonadal tumors.

It is important to note that not all individuals with WAGR Syndrome will exhibit all of these symptoms. The specific combination and severity of symptoms can vary widely. Genetic testing is necessary to confirm a diagnosis of WAGR Syndrome, particularly through the identification of the characteristic deletion on chromosome 11.

Early diagnosis and ongoing medical management are crucial for individuals with WAGR Syndrome. A multidisciplinary approach involving various specialists, such as geneticists, ophthalmologists, urologists, oncologists, and developmental pediatricians, can help provide comprehensive care and support tailored to the specific needs of each individual.